Mutation testing is critical for detecting the specific genetic changes that cause a wide range of hereditary disorders. It focuses on identifying conditions caused by single-gene mutations, such as cystic fibrosis, sickle cell anemia or Duchenne muscular dystrophy.
Conditions Diagnosed
- Cystic Fibrosis: Caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
- Sickle Cell Anemia: Results from a single mutation in the HBB gene and affects red blood cells.
- Duchenne Muscular Dystrophy: Mutations in the DMD gene lead to muscle weakness.
Techniques Used
- Sanger Sequencing: The gold standard for detecting specific gene mutations; used when a particular mutation is suspected.
- Next-Generation Sequencing (NGS): Allows several genes to be analyzed simultaneously in conditions with genetic heterogeneity.
- MLPA: Detects large deletions or duplications within genes, such as those causing Duchenne muscular dystrophy.